Variant report
| Variant | nsv820152 |
|---|---|
| Chromosome Location | chr15:31369001-31369280 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs557688444 | chr15:31369032-31369033 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs570704543 | chr15:31369091-31369092 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs202163956 | chr15:31369102-31369103 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs371017742 | chr15:31369110-31369111 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs189343111 | chr15:31369118-31369119 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs4779816 | chr15:31369123-31369124 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 7 | rs368092519 | chr15:31369149-31369150 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs180878088 | chr15:31369161-31369162 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs185131367 | chr15:31369200-31369201 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs4779817 | chr15:31369223-31369224 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 11 | rs575074831 | chr15:31369233-31369234 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs561642021 | chr15:31369253-31369254 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs4779818 | chr15:31369258-31369259 | Enhancers Weak transcription Strong transcription Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:152)
| Disease | PMID | Source |
|---|---|---|
| HDAC8 | 0 | CNVD |
| NIPBL | 0 | CNVD |
| RAD21 | 0 | CNVD |
| SMC1A | 0 | CNVD |
| SMC3 | 0 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prader-willi syndrome | 21504564 | CNVD |
| The inv dup or idic syndrome | 19019226 | CNVD |
| Prader-willi syndrome | 21233802 | CNVD |
| Angelman syndrome | 16617304 | CNVD |
| Angelman syndrome | 20970697 | CNVD |
| Autism | 22958593 | CNVD |
| Prader-willi syndrome | 16617304 | CNVD |
| Prader-willi syndrome | 18923514 | CNVD |
| Prader-willi syndrome | 20970697 | CNVD |
| Angelman syndrome | 16183798 | CNVD |
| Angelman syndrome | 18923514 | CNVD |
| Prader-willi syndrome | 22241247 | CNVD |
| Epilepsy | 20970697 | CNVD |
| Autism | 20970697 | CNVD |
| Autism | 19935738 | CNVD |
| Autism | 22930557 | CNVD |
| Autism | 19966786 | CNVD |
| Autism | 18923514 | CNVD |
| Autism | 18925931 | CNVD |
| Autism | 18835857 | CNVD |
| Prader-willi syndrome | 18835857 | CNVD |
| Prader-willi syndrome | 22152151 | CNVD |
| Autism | 22241247 | CNVD |
| 15q-syndrome | 21725066 | CNVD |
| Prader-willi syndrome | 21503198 | CNVD |
| Autism | 21956041 | CNVD |
| Prader-willi syndrome | 16760730 | CNVD |
| Prader-willi syndrome | 22470819 | CNVD |
| prenatal diagnosis | 20453657 | CNVD |
| Prader-willi syndrome | 17867985 | CNVD |
| Angelman syndrome | 21072004 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Prader-willi syndrome | 18781185 | CNVD |
| Melanoma | 18172304 | CNVD |
| Autism | 17322880 | CNVD |
| Prader-willi syndrome | 19329560 | CNVD |
| Autism | 17999366 | CNVD |
| Autism | 17901113 | CNVD |
| Neurodevelopmental disorder | 17015230 | CNVD |
| Autism | 18414403 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Mental retardation | 18923513 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Angelman syndrome | 18787571 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Abnormal corpus callosum | 21572526 | CNVD |
| Neuropsychiatric disorder | 20506139 | CNVD |
| Austim spectrum disorder | 21302340 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Autism | 19204725 | CNVD |
| Schizophrenia | 19204725 | CNVD |
| Schizophrenia | 19149910 | CNVD |
| Epilepsy | 22499536 | CNVD |
| Schizophrenia | 22499536 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Schizophrenia | 20587603 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Schizophrenia | 21285140 | CNVD |
| Schizophrenia | 20553308 | CNVD |
| Schizophrenia | 21956041 | CNVD |
| Schizophrenia | 20970697 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Mental retardation | 21956041 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Autism | 21269290 | CNVD |
| Intellectual disability | 21269290 | CNVD |
| Schizophrenia | 21269290 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Epilepsy | 19289393 | CNVD |
| Epilepsy | 20643615 | CNVD |
| Mental retardation | 19289393 | CNVD |
| Mental retardation | 20152051 | CNVD |
| Schizophrenia | 19289393 | CNVD |
| dysmorphic features | 19289393 | CNVD |
| idiopathic epilepsies | 19341504 | CNVD |
| idiopathic generalized epilepsy | 19592580 | CNVD |
| idiopathic generalized epilepsy | 19136953 | CNVD |
| Autism | 22094647 | CNVD |
| Developmental delay | 19898479 | CNVD |
| Mental retardation | 18278044 | CNVD |
| Mental retardation | 19898479 | CNVD |
| Prader-willi syndrome | 18854863 | CNVD |
| Schizophrenia | 19855392 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Epilepsy | 20502679 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 19521722 | CNVD |
| Epilepsy | 19521722 | CNVD |
| Mental retardation | 19521722 | CNVD |
| Schizophrenia | 19521646 | CNVD |
| Autism | 19050728 | CNVD |
| Schizophrenia | 19348701 | CNVD |
| Schizophrenia | 18668039 | CNVD |
| Schizophrenia | 18990708 | CNVD |
| Schizophrenia | 19571808 | CNVD |
| Velocardiofacial syndrome | 19329560 | CNVD |
| Schizophrenia | 19443537 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Autism | 19955444 | CNVD |
| Autism | 20964600 | CNVD |
| Schizophrenia | 19955444 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:31363600-31372600 | Weak transcription | Spleen | Spleen |
| 2 | chr15:31365000-31369800 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 3 | chr15:31367400-31369600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 4 | chr15:31367400-31371400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 5 | chr15:31367400-31371400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 6 | chr15:31367400-31372600 | Enhancers | H1 Cell Line | embryonic stem cell |
| 7 | chr15:31367600-31370000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 8 | chr15:31367600-31371600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 9 | chr15:31367800-31371000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 10 | chr15:31367800-31371000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 11 | chr15:31367800-31375600 | Genic enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 12 | chr15:31368000-31374600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 13 | chr15:31368200-31369400 | Strong transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 14 | chr15:31368400-31369400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 15 | chr15:31368400-31369400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 16 | chr15:31368400-31369400 | Weak transcription | Fetal Brain Male | brain |
| 17 | chr15:31368400-31369600 | Weak transcription | Fetal Brain Female | brain |
| 18 | chr15:31368400-31369800 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 19 | chr15:31368400-31369800 | Weak transcription | Lung | lung |
| 20 | chr15:31368400-31371000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 21 | chr15:31369200-31370400 | Enhancers | GM12878-XiMat | blood |
